Rare Diseases Symptoms Automatic Extraction

Secrets of the cutaneous basement membrane.

[junctional epidermolysis bullosa]

The paper in this issue by Has and co-workers reports 15 non-Herlitz epidermolysis bullosa patients with the same single amino-acid substitution in collagen XVII, all of whom presented with clinical and pathological features resembling Kindler syndrome. Here we consider why and how a hemidesmosomal pathology can mimic a focal adhesion bond disease, both clinically and ultrastructurally.

Diseases presenting "same single amino-acid substitution in collagen" symptom

  • junctional epidermolysis bullosa
  • kindler syndrome

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